X-gebonden niet-progressieve cerebellaire ataxie (aandoening)
X-gebonden niet-progressieve cerebellaire ataxie
X-gebonden spinocerebellaire ataxie type 5
X-linked non progressive cerebellar ataxia
X-linked spinocerebellar ataxia type 5
A rare hereditary ataxia with characteristics of delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.
Clinical courseniet-progressief
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermCongenitale niet-progressieve ataxie
SNOMED CT to Orphanet simple map314978
SNOMED CT to ICD-10 extended map
AdviceALWAYS G11.0
CorrelationSNOMED CT source code to target map code correlation not specified